Back to resultsNewborn Screening Assay of Pompe's Disease
Primary Purpose
Pompe Disease
Status
Completed
Phase
Not Applicable
Locations
Taiwan
Study Type
Interventional
Intervention
Pompe disease newborn screening
Sponsored by
About this trial
This is an interventional screening trial for Pompe Disease focused on measuring Pompe disease, alpha glucosidase deficiency
Eligibility Criteria
Inclusion Criteria:
- newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
- parents signed inform consent for this study
Exclusion Criteria:
-
Sites / Locations
- National Taiwan University Hospital
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Pompe disease newborn screening
Arm Description
newborns will be tested if they were affected by Pompe disease
Outcomes
Primary Outcome Measures
detect patients with infantile onset Pompe disease
Secondary Outcome Measures
Full Information
NCT ID
NCT01758354
First Posted
July 9, 2008
Last Updated
December 26, 2012
Sponsor
National Taiwan University Hospital
1. Study Identification
Unique Protocol Identification Number
NCT01758354
Brief Title
Newborn Screening Assay of Pompe's Disease
Official Title
Newborn Screening Assay of Pompe's Disease
Study Type
Interventional
2. Study Status
Record Verification Date
November 2012
Overall Recruitment Status
Completed
Study Start Date
September 2005 (undefined)
Primary Completion Date
December 2009 (Actual)
Study Completion Date
December 2009 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
National Taiwan University Hospital
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief Summary
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
Detailed Description
DBS from newborn will be tested for acid alpha-glucosidase (GAA) activity. Babies with low GAA activity will be confirmed for Pompe disease.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pompe Disease
Keywords
Pompe disease, alpha glucosidase deficiency
7. Study Design
Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
236536 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Pompe disease newborn screening
Arm Type
Experimental
Arm Description
newborns will be tested if they were affected by Pompe disease
Intervention Type
Other
Intervention Name(s)
Pompe disease newborn screening
Intervention Description
DBS will be tested for acid alpha-glucosidase (GAA)activity. Newborns with low GAA activity will received a confirmatory blood sampling and clinical evaluation for the presence of cardiomyopathy.
Primary Outcome Measure Information:
Title
detect patients with infantile onset Pompe disease
Time Frame
3 months
10. Eligibility
Sex
All
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
parents signed inform consent for this study
Exclusion Criteria:
-
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Whu-Liang Hwu, MD, PhD
Organizational Affiliation
National Taiwan University Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
National Taiwan University Hospital
City
Taipei
Country
Taiwan
12. IPD Sharing Statement
Learn more about this trial
Newborn Screening Assay of Pompe's Disease
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